Results 51 to 60 of about 9,184 (168)

Ventriculomegaly, Intrauterine Growth Restriction, and Congenital Heart Defects as Salient Prenatal Sonographic Findings of Miller-Dieker Lissencephaly Syndrome Associated With Monosomy 17p (17p13.2 → pter) in a Fetus

Taiwanese Journal of Obstetrics & Gynecology, 2010
Objective: To present the prenatal sonographic findings of Miller-Dieker lissencephaly syndrome (MDLS) associated with monosomy 17p (17p13.2 → pter) in a fetus. Case Report: A 25-year-old, gravida 3, para 1, woman was referred to Mackay Memorial Hospital
Chih-Ping Chen, Yu-Peng Liu, Shaun-Pei Lin, Ming Chen, Fuu-Jen Tsai, Yu-Ting Chen, Li-Feng Chen, Jonathan Kwei Hwang, Wayseen Wang   +8 more
doaj   +1 more source

Essential role of the Crk family-dosage in DiGeorge-like anomaly and metabolic homeostasis

Life Science Alliance, 2020
This study presents evidence that CRK/CRKL and TBX1 may share pathways that participate in organogenesis affected in DiGeorge syndrome (22q11.2DS) via global control of gene expression and metabolism CRK and CRKL ( CRK-like ) encode adapter proteins with
Akira Imamoto, Sewon Ki, Leiming Li, Kazunari Iwamoto, Venkat Maruthamuthu, John Devany, Ocean Lu, Tomomi Kanazawa, Suxiang Zhang, Takuji Yamada, Akiyoshi Hirayama, Shinji Fukuda, Yutaka Suzuki, Mariko Okada   +13 more
doaj   +1 more source

Concurrent Howell–Jolly body‐like inclusions, Barr bodies and Döhle bodies in an immunosuppressed patient with sepsis

British Journal of Haematology, EarlyView.
Vandana Panakkal, Nana P. Matsumoto
wiley   +1 more source

Immune Evasion of Helicobacter pylori and Extra‐Gastric Cancer Risk

Journal of Gastroenterology and Hepatology, Volume 41, Issue 6, Page 1722-1742, June 2026.
ABSTRACT Helicobacter pylori (H. pylori) is a group 1 gastric carcinogen that plays a significant role in extra‐gastric digestive system cancers. H. pylori disrupts host cell homeostasis through expression of virulence factors leading to immune evasion as well as persistent gastric mucosal colonization. H. pylori infection has been shown to play a role
Evren Doruk Engin, Ayse Basak Engin, Atilla Engin   +2 more
wiley   +1 more source

Utero-vaginal aplasia (Mayer-Rokitansky-Küster-Hauser syndrome) associated with deletions in known DiGeorge or DiGeorge-like loci

Orphanet Journal of Rare Diseases, 2011
Background Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is characterized by congenital aplasia of the uterus and the upper part of the vagina in women showing normal development of secondary sexual characteristics and a normal 46, XX karyotype.
Odent Sylvie, Paniel Bernard-Jean, Loget Philippe, Dubourg Christèle, Le Caignec Cédric, Rochard Lucie, Pasquier Laurent, Watrin Tanguy, Morcel Karine, David Véronique, Pellerin Isabelle, Bendavid Claude, Guerrier Daniel   +12 more
doaj   +1 more source

Domain associated with zinc fingers‐containing NF90‐NF45 complex inhibits m6A modification of primary microRNA by suppressing METTL3/14 activity

FEBS Open Bio, Volume 16, Issue 5, Page 921-931, May 2026.
NF90–NF45 functions as a negative regulator of methyltransferase‐like 3/14 (METTL3/14)‐mediated N6‐methyladenosine (m6A) modification on primary microRNAs (pri‐miRNAs). NF90–NF45 binds to anti‐oncogenic pri‐miRNAs and inhibits their m6A modification, thereby suppressing the biogenesis of anti‐oncogenic miRNAs.
Takuma Higuchi, Shunsuke Morioka, Keiko Morisawa, Kazutsugu Matsukawa, Shingo Ashida, Takeshi Suzuki, Shuji Sakamoto   +6 more
wiley   +1 more source

Uncovering the Genetic Landscape of Spinal Dysraphism: A Retrospective Analysis of 150 Fetal Cases

Prenatal Diagnosis, Volume 46, Issue 5-6, Page 849-861, May 2026.
ABSTRACT Objective Spinal dysraphism (SD) results from incomplete neural tube closure and encompasses a heterogeneous group of congenital anomalies with genetic and environmental etiologies. Although genetic contributions are recognized, causative variants remain insufficiently defined, and the clinical implications of extended genetic testing on ...
I. Bedei, A. Feresin, R. Zemet, D. Berner, D. Polidori, K. Fröbius, A. Skakkebæk, R. Axt‐Fliedner, M. Shoukier, C. Keil   +9 more
wiley   +1 more source

Combined 22q11.1-q11.21 deletion with 15q11.2-q13.3 duplication identified by array-CGH in a 6 years old boy

Molecular Cytogenetics, 2011
Background Deletions of chromosome 22q11 are present in over 90% of cases of DiGeorge or Velo-Cardio-Facial syndrome (DGS/VCFS). 15q11-q13 duplication is another recognized syndrome due to rearrangements of several genes, belonging to the category of ...
Papadopoulou Anna, Kokotas Haris, Merou Konstantina, Kitsos George, Sofocleus Christalena, Leze Eleni, Kefalas Konstantinos, Vetro Annalisa, Sarri Catherine, Manolakos Emmanouil, Attilakos Achilleas, Petersen Michael B, Kitsiou-Tzeli Sofia   +12 more
doaj   +1 more source

Immunocompromised Status Definition in Observational Studies Using Electronic Health Records: A Scoping Review and a Proposal for a Phenotype Identification Algorithm

Pharmacoepidemiology and Drug Safety, Volume 35, Issue 4, April 2026.
ABSTRACT Immunocompromised individuals experience an impaired immune function due to conditions that might be either congenital or acquired over the course of their lives. Epidemiological studies often rely on clinical definitions which, in some cases, benefit from being translated into machine‐readable algorithms for application to electronic health ...
Judit Riera‐Arnau, Nicoletta Luxi, Fabio Riefolo, Martín Solorzano, Irene Pazos, Elena Ballarín, Lise Skovgaard Svingel, Lorenzo Chiusaroli, Elisa Martín‐Merino, Elisa Barbieri, María Lopez‐Lasanta, Sima Mohammadi, Denis Rotta, Alexandra Pacurariu, Catherine Cohet, Miriam Sturkenboom, Carlos E. Durán, on behalf of the SAFETY‐VAC study consortium, Carlos E. Durán, Miriam Sturkenboom, Judit Riera‐Arnau, Nicoletta Luxi, Olaf Klungel, Patrick Souverein, Sima Mohammadi, Fabio Riefolo, Irene Pazos, Rosa Gini, Davide Messina, Giuseppe Roberto, Carlo Giaquinto, Elisa Barbieri, Luca Stona, Felipe Villalobos, Martín Solorzano, Carlo Alberto Bissacco, Antonio Gimeno, Beatriz Poblador, Mercedes Aza, Aida Moreno, Alejandro Santos, Vera Ehrenstein, Lise Skovgaard Svingel, Benjamin Randeris Johannesen, Cécile Droz‐Perroteau, Laure Carcaillon‐Bentata, Anna‐Mija Tolppanen, Sirpa Hartikainen, Thuan Vo, Anne Paakinaho, Blair Rajamaki, Hedvig Nordeng, Saeed Hayati, Mahmoud Zidan, Juan José Carreras Martínez, Arantxa Urchueguía Fornes, Elisa Correcher Martínez, Javier Díez‐Domingo, Mar Martin, Patricia Garcia‐Poza, Airam de Burgos, Belén Castillo‐Cano, Elisa Martín‐Merino   +62 more
wiley   +1 more source

DiGeorge Syndrome Associated with Azoospermia: First case in the literature

Urology Research and Practice, 2019
DiGeorge syndrome (DGS) is one of the most frequently seen chromosomal abnormalities. The major genetic cause of DGS is a microdeletion on chromosome 22q11.2. Majority of the cases are diagnosed during their childhood.
Ayşegül Özcan, Yavuz Şahin
doaj   +1 more source